SCN5A overlap syndromes: An open-minded approach

被引：5
|
作者：
Porretta, Alessandra P. [1 ,2 ]
Probst, Vincent [3 ]
Bhuiyan, Zahurul A. [4 ]
Davoine, Emeline [4 ]
Deliniere, Antoine [5 ]
Pascale, Patrizio [1 ]
Schlaepfer, Juerg [1 ]
Superti-Furga, Andrea [4 ,6 ]
Pruvot, Etienne [1 ]
机构：
[1] CHU Vaudois, Serv Cardiol, Lausanne, Switzerland
[2] Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Pavia, Italy
[3] CHU Nantes, Hop Nord, Serv Cardiol, Inst Thorax, Nantes, France
[4] Lausanne Univ Hosp, Div Genet Med, Lausanne, Switzerland
[5] Hosp Civils Lyon, Hop Cardiol Louis Pradel, Serv Rhythmol, Lyon, France
[6] Univ Lausanne, Lausanne, Switzerland
来源：
HEART RHYTHM | 2022年 / 19卷 / 08期
关键词：
Cardiogenetics; Channelopathies; Polygenic inheritance; SCN5A gene; SCN5A overlap syndrome; SICK SINUS SYNDROME; BRUGADA-SYNDROME; CONDUCTION DISEASE; HIGH-RISK; LONG-QT; MUTATION; MANIFESTATIONS; PREDOMINANCE; TESTOSTERONE; TRAFFICKING;
D O I：
10.1016/j.hrthm.2022.03.1223
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.
引用
收藏
页码：1363 / 1368
页数：6
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